Introducing The Empowered Genome Community

October 15th 2013

Today, we announced an exciting new initiative called the Empowered Genome Community. This first-of-its-kind effort aims to help people who have had their genomes sequenced share, explore, and interpret their data with researchers and each other using QIAGEN’s Ingenuity Variant Analysis.

Anyone who has had her or his whole genome sequenced through Harvard’s Personal Genome Project (PGP) or other programs such as the Understand Your Genome (UYG) program is invited to join the Empowered Genome Community. Participants will retain full ownership and control of their private data, and can explore their genomes and, as desired, usefully share them with each other and with full-time researchers in their own free Variant Analysis accounts. By pooling their data and actively working with interested full-time researchers, members can make their genomes directly useful as controls or cases in future studies of diseases and other phenotypes.

To demonstrate how this kind of community could work, we used Variant Analysis to compare the whole genomes of 111 PGP participants who were surveyed for eye diseases. Initial findings identified 46 genes enriched with rare, potentially functionally relevant variants in people with myopia, but not those without the condition. Further filtering in Variant Analysis using functional insight from the Ingenuity Knowledge Base showed that 17 of these genes are implicated in eye phenotypes in people or mice, or directly interact with such genes.

To further refine these findings, we have made them accessible via Variant Analysis and we invite anyone to join this open collaboration through 31 January 2014. Anyone – citizen scientist or full-time researcher alike – can directly review and help refine the analysis with the goal of jointly publishing robust insights on myopia next year.